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Antoine Civit

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Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistakeAntoine Civit, Paul Gueguen, Helene Blasco, et al.
Brain : a Journal of Neurology|July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaYuji Nakamura, Issei S Shimada, Reza Maroofian, et al.
Pageof 1

Showing results (1-10 of 3) with videos related to

Sort By:
Pageof 1
Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistakeAntoine Civit, Paul Gueguen, Helene Blasco, et al.
Brain : a Journal of Neurology|July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaYuji Nakamura, Issei S Shimada, Reza Maroofian, et al.
Pageof 1